Does this mean it is illegal? Deputy Wang Liang Gang of Beijing Law Association’s Medical Committee seems to think so. “If it’s not mentioned, it’s not legal.”

Berry Genomics, which has successfully carved a market for itself by licensing a technology which allows it to collect and enrich fetal DNA from the mother’s blood, has created a diagnostic tool (Bambni) to test for Trisomy 21, an extra copy of chromosome 21 which leads to Down Syndrome, exemplified by mental retardation as well as other physical ailments. The technique is relatively non-invasive and acquires cell-free fetal DNA, which is then analyzed to confirm the presence or absence of a third copy of chromosome 21. The alternative used to be using a large needle that penetrates the mother’s abdomen to collect samples. The new technique is relatively safer and also accurate. It has already been used around 50,000 times in hospitals in China, typically resulting in aborted fetuses if the condition, which is purportedly 99% accurate, is confirmed.

The recent regulatory change may put a damper on this increasingly popular test.

]]>http://webmd.cn/berry-genomics-test-illegal/feed/3New genetic factors behind severe childhood epilepsy identifiedhttp://webmd.cn/new-genetic-factors-behind-severe-childhood-epilepsy-identified/
http://webmd.cn/new-genetic-factors-behind-severe-childhood-epilepsy-identified/#respondWed, 14 Aug 2013 04:16:16 +0000http://www.wangyisheng.asia/?p=94Researchers have identified 25 new mutations on six key genes associated with severe forms of childhood epilepsy, according to a large-scale international study largely funded by the U.S. National Institutes of Health. The study, part of a project involving more than 40 international institutions, used a cutting-edge genetic technique, called exome sequencing, to search for […]

]]>Researchers have identified 25 new mutations on six key genes associated with severe forms of childhood epilepsy, according to a large-scale international study largely funded by the U.S. National Institutes of Health.

The study, part of a project involving more than 40 international institutions, used a cutting-edge genetic technique, called exome sequencing, to search for non-inherited mutations linked to epileptic encephalopathies in 264 children whose parents who do not have epilepsy.

“We identified an unusually large number of distinct disease- causing mutations — 25 in total, all of which were de novo (brand new) mutations,” study author David Goldstein, director of the Human Genome Variation Center at the Duke University Medical Center, in a statement.

The study known as Epilepsy 4000 (Epi4K) found a total of six genes behind the devastating form of the disorder: four had been described before using other genetic techniques and two genes are implicated for the first time.

Epilepsy is a group of neurological disorders caused by abnormal firing of nerve cells in the brain which often produces debilitating seizures and a range of other symptoms. More than 2 million people in the United States suffer from epilepsies, and infants and children have a greater chance of having the disorders than adults.